TLX1: T-Cell Leukemia Homeobox 1
A key transcription factor in T-cell development and oncogenesis
Gene Information Card
| Symbol | TLX1 |
|---|---|
| Full Name | T-cell leukemia homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 3195 ncbi.nlm.nih.gov/gene/3195 |
| Ensembl ID | ENSG00000170345 |
| UniProt ID | P31314 |
| OMIM ID | 186770 |
| HGNC ID | 11881 |
| Aliases | HOX11, TCL3 |
Description
TLX1 (T-cell leukemia homeobox 1), also known as HOX11, is a homeobox-containing transcription factor essential for normal spleen development and T-cell differentiation. It is frequently activated by chromosomal translocations in T-cell acute lymphoblastic leukemia (T-ALL), where it acts as an oncogene by promoting cell proliferation and blocking apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | TLX1 overexpression due to t(10;14)(q24;q11) or t(7;10)(q35;q24) translocations leads to aberrant T-cell development and leukemogenesis | OMIM #186770; NCBI Gene; COSMIC |
| Splenic hypoplasia/aplasia | Loss-of-function mutations in TLX1 impair spleen organogenesis during embryonic development | OMIM #186770; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 0.0 | Not detected (low expression in adult; high in fetal) |
| Lymph node | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Thymus | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-ALL) | 0.0 | TLX1 is not expressed in this cell line; used as negative control |
| DND-41 (T-ALL) | 0.0 | TLX1-negative T-ALL cell line |
| KOPT-K1 (T-ALL) | 0.0 | TLX1-negative T-ALL cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| t(10;14)(q24;q11) | Translocation | Common in T-ALL | Places TLX1 under control of TCR alpha/delta enhancer, causing overexpression |
| t(7;10)(q35;q24) | Translocation | Rare in T-ALL | Places TLX1 under control of TCR beta enhancer, causing overexpression |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense/nonsense mutations in TLX1 are associated with splenic agenesis; loss of homeodomain DNA-binding activity.
Gain of Function (GOF)
Chromosomal translocations leading to ectopic TLX1 expression in T-cells confer a gain-of-function oncogenic effect.
Dominant Negative (DN)
No dominant-negative mutations reported for TLX1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (involved in T-ALL)
• Transcriptional misregulation in cancer
Protein Summary
TLX1 encodes a 257-amino acid homeodomain-containing transcription factor. The protein binds DNA via its helix-turn-helix motif and regulates genes involved in cell cycle, apoptosis, and differentiation. In T-ALL, TLX1 overexpression blocks T-cell differentiation and promotes leukemic transformation. The protein is normally expressed in the developing spleen and is critical for spleen organogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TLX1 Knockout HEK293 Cell Line | EDJ-KQ2770 | Human | 3195 | Details Get a Quote |
| TLX1 Knockout HeLa Cell Line | EDJ-KQ53543 | Human | 3195 | Details Get a Quote |
| TLX1 Knockout A-549 Cell Line | EDJ-KQ62014 | Human | 3195 | Details Get a Quote |
| TLX1 Knockout HCT 116 Cell Line | EDJ-KQ70491 | Human | 3195 | Details Get a Quote |
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